3f31: Difference between revisions
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{{STRUCTURE_3f31| PDB=3f31 | SCENE= }} | {{STRUCTURE_3f31| PDB=3f31 | SCENE= }} | ||
===Crystal Structure of the N-terminal region of AlphaII-spectrin Tetramerization Domain=== | |||
{{ABSTRACT_PUBMED_20228407}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/SPTA2_HUMAN SPTA2_HUMAN]] Defects in SPTAN1 are the cause of epileptic encephalopathy early infantile type 5 (EIEE5) [MIM:[http://omim.org/entry/613477 613477]]. EIEE5 is a disorder characterized by seizures associated with hypsarrhythmia profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.<ref>PMID:20493457</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/SPTA2_HUMAN SPTA2_HUMAN]] Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. | |||
==About this Structure== | ==About this Structure== | ||
| Line 14: | Line 16: | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:020228407</ref><references group="xtra"/> | <ref group="xtra">PMID:020228407</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Fung, L W.]] | [[Category: Fung, L W.]] | ||
